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Article

Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2022

Choi Yunha, Oh Arum, Lee Yena, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wook, Lee Beom Hee

Abstract excerpt

PURPOSE: Carbamoyl phosphate synthetase 1 (CPS1) deficiency affects the first step of urea cycle and is a severe form of urea cycle disorder (UCD). The severity of hyperammonemic encephalopathy determines the clinical course of UCDs. Here, we describe the genetic and clinical characteristics of CPS1 deficiency in Korea. PATIENT AND METHODS: This study included seven patients with CPS1 deficiency genetically...

Topics

Carbamoyl-Phosphate Synthase (Ammonia)
Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbamyl Phosphate
Humans
Infant, Newborn
Mutation
Urea Cycle Disorders, Inborn

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34973183
DOI: 10.1016/j.cca.2021.11.029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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